ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4264G>A (p.Ala1422Thr) (rs144726977)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430051 SCV000529829 uncertain significance not provided 2016-07-08 criteria provided, single submitter clinical testing The A1422T variant in the IFT140 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, the NHLBI Exome Sequencing Project reports A1422T was observed in 14/4392 alleles (0.32%) from individuals of African American background, indicating it may be a rare variant in this population. The A1422T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A1422T as a variant of uncertain significance.
Invitae RCV001088694 SCV001021607 likely benign Saldino-Mainzer syndrome 2020-03-11 criteria provided, single submitter clinical testing

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